rs80358789
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6 | BRCA2 variant considered pathogenic for breast cancer |
(C;C) | 0 | common in clinvar |
Make rs80358789(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 13 |
Position | 32340010 |
Gene | BRCA2 |
is a | snp |
is | mentioned by |
dbSNP | rs80358789 |
dbSNP (classic) | rs80358789 |
ClinGen | rs80358789 |
ebi | rs80358789 |
HLI | rs80358789 |
Exac | rs80358789 |
Gnomad | rs80358789 |
Varsome | rs80358789 |
LitVar | rs80358789 |
Map | rs80358789 |
PheGenI | rs80358789 |
Biobank | rs80358789 |
1000 genomes | rs80358789 |
hgdp | rs80358789 |
ensembl | rs80358789 |
geneview | rs80358789 |
scholar | rs80358789 |
rs80358789 | |
pharmgkb | rs80358789 |
gwascentral | rs80358789 |
openSNP | rs80358789 |
23andMe | rs80358789 |
SNPshot | rs80358789 |
SNPdbe | rs80358789 |
MSV3d | rs80358789 |
GWAS Ctlg | rs80358789 |
Max Magnitude | 6 |
rs80358789, also known as C1885X, c.5655C>A and p.Cys1885Ter, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
ClinVar | |
---|---|
Risk | rs80358789(A;A) |
Alt | rs80358789(A;A) |
Reference | Rs80358789(C;C) |
Significance | Pathogenic |
Disease | Breast-ovarian cancer Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | BRCA2 |
CLNDBN | Breast-ovarian cancer, familial 2 Hereditary breast and ovarian cancer syndrome not provided Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000013.10:g.32914147C>A |
CLNSRC | ClinVar |
CLNACC | RCV000031566.7, RCV000044709.3, RCV000160093.3, RCV000220539.1, |